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Items: 19

1.

An intronic mutation in Chd7 creates a cryptic splice site, causing aberrant splicing in a mouse model of CHARGE syndrome.

Ogier JM, Arhatari BD, Carpinelli MR, McColl BK, Wilson MA, Burt RA.

Sci Rep. 2018 Apr 3;8(1):5482. doi: 10.1038/s41598-018-23856-8.

2.

Stage-dependent therapeutic efficacy in PI3K/mTOR-driven squamous cell carcinoma of the skin.

Darido C, Georgy SR, Cullinane C, Partridge DD, Walker R, Srivastava S, Roslan S, Carpinelli MR, Dworkin S, Pearson RB, Jane SM.

Cell Death Differ. 2018 Jun;25(6):1146-1159. doi: 10.1038/s41418-017-0032-0. Epub 2017 Dec 13.

3.

Grainyhead-like Transcription Factors in Craniofacial Development.

Carpinelli MR, de Vries ME, Jane SM, Dworkin S.

J Dent Res. 2017 Oct;96(11):1200-1209. doi: 10.1177/0022034517719264. Epub 2017 Jul 11. Review.

PMID:
28697314
4.

Mice Haploinsufficient for Ets1 and Fli1 Display Middle Ear Abnormalities and Model Aspects of Jacobsen Syndrome.

Carpinelli MR, Kruse EA, Arhatari BD, Debrincat MA, Ogier JM, Bories JC, Kile BT, Burt RA.

Am J Pathol. 2015 Jul;185(7):1867-76. doi: 10.1016/j.ajpath.2015.03.026.

PMID:
26093983
5.

CHD7 deficiency in "Looper", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment.

Ogier JM, Carpinelli MR, Arhatari BD, Symons RC, Kile BT, Burt RA.

PLoS One. 2014 May 19;9(5):e97559. doi: 10.1371/journal.pone.0097559. eCollection 2014.

6.

A new mouse model of Canavan leukodystrophy displays hearing impairment due to central nervous system dysmyelination.

Carpinelli MR, Voss AK, Manning MG, Perera AA, Cooray AA, Kile BT, Burt RA.

Dis Model Mech. 2014 Jun;7(6):649-57. doi: 10.1242/dmm.014605. Epub 2014 Mar 28.

7.

Impact of pre-storage and bedside filtered leukocyte-depleted blood transfusions on infective morbidity after colorectal resection: a single-center analysis of 437 patients.

Garancini M, Degrate L, Carpinelli MR, Maternini M, Uggeri F, Giordano L, Uggeri F, Romano F.

Surg Infect (Larchmt). 2013 Aug;14(4):374-80. doi: 10.1089/sur.2012.183. Epub 2013 Jul 16.

PMID:
23859683
8.

Two ENU-induced alleles of Atp2b2 cause deafness in mice.

Carpinelli MR, Manning MG, Kile BT, Burt RA.

PLoS One. 2013 Jun 24;8(6):e67479. doi: 10.1371/journal.pone.0067479. Print 2013. Erratum in: PLoS One. 2013;8(7). doi:10.1371/annotation/f605bb2c-37b6-4fa7-a213-324df679c464. Rachel, A Burt [corrected to Burt, Rachel A].

9.

Anti-apoptotic gene Bcl2 is required for stapes development and hearing.

Carpinelli MR, Wise AK, Arhatari BD, Bouillet P, Manji SS, Manning MG, Cooray AA, Burt RA.

Cell Death Dis. 2012 Aug 9;3:e362. doi: 10.1038/cddis.2012.100.

10.

Genetic Modifier Screens in Mice.

Carpinelli MR, Burt RA, Kile BT.

Curr Protoc Mouse Biol. 2012 Mar 1;2(1):75-87. doi: 10.1002/9780470942390.mo110161.

PMID:
26069006
11.

Vitamin D-deficient diet rescues hearing loss in Klotho mice.

Carpinelli MR, Wise AK, Burt RA.

Hear Res. 2011 May;275(1-2):105-9. doi: 10.1016/j.heares.2010.12.009. Epub 2010 Dec 16.

PMID:
21167925
12.

Regulation of hematopoietic stem cells by their mature progeny.

de Graaf CA, Kauppi M, Baldwin T, Hyland CD, Metcalf D, Willson TA, Carpinelli MR, Smyth GK, Alexander WS, Hilton DJ.

Proc Natl Acad Sci U S A. 2010 Dec 14;107(50):21689-94. doi: 10.1073/pnas.1016166108. Epub 2010 Nov 29.

13.

Critical roles for c-Myb in lymphoid priming and early B-cell development.

Greig KT, de Graaf CA, Murphy JM, Carpinelli MR, Pang SH, Frampton J, Kile BT, Hilton DJ, Nutt SL.

Blood. 2010 Apr 8;115(14):2796-805. doi: 10.1182/blood-2009-08-239210. Epub 2010 Feb 3.

14.

Programmed anuclear cell death delimits platelet life span.

Mason KD, Carpinelli MR, Fletcher JI, Collinge JE, Hilton AA, Ellis S, Kelly PN, Ekert PG, Metcalf D, Roberts AW, Huang DC, Kile BT.

Cell. 2007 Mar 23;128(6):1173-86.

15.

Thrombocytopenia and kidney disease in mice with a mutation in the C1galt1 gene.

Alexander WS, Viney EM, Zhang JG, Metcalf D, Kauppi M, Hyland CD, Carpinelli MR, Stevenson W, Croker BA, Hilton AA, Ellis S, Selan C, Nandurkar HH, Goodnow CC, Kile BT, Nicola NA, Roberts AW, Hilton DJ.

Proc Natl Acad Sci U S A. 2006 Oct 31;103(44):16442-7. Epub 2006 Oct 24.

16.

A mutation in the translation initiation codon of Gata-1 disrupts megakaryocyte maturation and causes thrombocytopenia.

Majewski IJ, Metcalf D, Mielke LA, Krebs DL, Ellis S, Carpinelli MR, Mifsud S, Di Rago L, Corbin J, Nicola NA, Hilton DJ, Alexander WS.

Proc Natl Acad Sci U S A. 2006 Sep 19;103(38):14146-51. Epub 2006 Sep 11.

17.

Anomalous megakaryocytopoiesis in mice with mutations in the c-Myb gene.

Metcalf D, Carpinelli MR, Hyland C, Mifsud S, Dirago L, Nicola NA, Hilton DJ, Alexander WS.

Blood. 2005 May 1;105(9):3480-7. Epub 2005 Jan 21.

PMID:
15665109
18.

Suppressor screen in Mpl-/- mice: c-Myb mutation causes supraphysiological production of platelets in the absence of thrombopoietin signaling.

Carpinelli MR, Hilton DJ, Metcalf D, Antonchuk JL, Hyland CD, Mifsud SL, Di Rago L, Hilton AA, Willson TA, Roberts AW, Ramsay RG, Nicola NA, Alexander WS.

Proc Natl Acad Sci U S A. 2004 Apr 27;101(17):6553-8. Epub 2004 Apr 7.

19.

An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets.

Carpinelli MR, Wicks IP, Sims NA, O'Donnell K, Hanzinikolas K, Burt R, Foote SJ, Bahlo M, Alexander WS, Hilton DJ.

Am J Pathol. 2002 Nov;161(5):1925-33.

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